{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139687588",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 426,
          "referenceAllele": "P",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_000393.4:p.Pro426Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA415234033",
          "hgvs": "NM_000402.4:c.1277C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146945"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975606[alleleid]",
        "alleleId": 975606,
        "preferredName": "NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/987108",
        "RCV": [
          "RCV001268349",
          "RCV002305587"
        ],
        "variationId": 987108
      }
    ]
  },
  "type": "amino-acid"
}